Lobstein disease (type I) osteogenesis imperfecta is a genetic disorder that causes bones to fracture easily. It's caused by a mutation in a gene called COL1A1.
1. The mutation causes the body to produce a defectively structured protein called collagen. Collagen helps give bones strength and flexibility. When it's defective, bones become weaker and more likely to break or deform.
2. People with Lobstein disease often have blue sclerae (the white part of their eyes), short stature, and hearing loss. They may also have delayed growth and development, including delayed tooth eruption and puberty onset.
3. Lobstein disease is one of several types of osteogenesis imperfecta (OI). The other types include OI type II (also known as a brittle bone disease), which is milder than type I but more likely to cause fractures; OI type III (also known as osteoporosis-pseudoglioma syndrome), which causes very fragile bones that are prone to fractures; OI type IV (also known as Albers-Schonberg disease), which causes severe bone deformities.
The risk factors for Lobstein disease (type I) include:
1. Family history of the disease. If you have a parent or sibling with Lobstein disease, you are at increased risk of developing it yourself. There is also an increased risk if your parents or siblings have other conditions related to bone development, such as osteogenesis imperfecta or osteopetrosis.
2. Gestational age: The younger the fetus is when diagnosed with Lobstein disease (type I), the more severe its symptoms are likely to be.
3. Birth weight: Babies born with Lobstein disease (type I) who weigh less than 3 pounds at birth tend to have more severe symptoms than those born at normal birth weight.
Bone pain in the legs, hips and back,Bone deformity, including spinal curvature and bowlegs,Short height
Congenital cardiac disease,Neurosurgery and aneurysms,Other bone diseases, such as osteogenesis imperfecta and osteoporosis,Exposure to medications, such as lithium or phenytoin (Dilantin)